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Takenouchi-Kosaki syndrome
Other Resources UpToDate PubMed

Takenouchi-Kosaki syndrome

Contributors: Negar Esfandiari BHSc, Keith Morley MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Takenouchi-Kosaki syndrome is an extremely rare inherited disease caused by a heterozygous de novo mutation in the cell division cycle 42 (CDC42) gene. Fewer than 20 cases have been reported in the literature since it was first identified in 2015.

It is characterized by macrothrombocytopenia, developmental delay, dysmorphic facies, and deafness. Facial features include hypertelorism, up-slanting palpebral fissures, low-set and small auricles, short philtrum, thin vermillion border, flat nasal bridge, and micrognathia.

Lymphopenia with resulting immunodeficiency, structural brain abnormalities, vascular malformations (liver hemangiomas), aortic aneurysms, splenomegaly, autoimmune hemolytic anemia, hypothyroidism, systemic inflammation, myelofibrosis, lymphedema, and eczema have been reported. Camptodactyly and clinodactyly may also be observed.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
1172685001 – Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:08/07/2022
Last Updated:08/08/2022
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Takenouchi-Kosaki syndrome
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A medical illustration showing key findings of Takenouchi-Kosaki syndrome
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